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RGD uses the Human Disease Ontology (DO, for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Glycogen Storage Disease 0, Liver
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Accession:DOID:9006581 term browser browse the term
Synonyms:exact_synonym: GSD 0a;   GSD0A;   Hypoglycemia With Deficiency Of Glycogen Synthetase In The Liver;   Liver Glycogen Synthase Deficiency
 primary_id: MESH:C565485;   RDO:0014106
 alt_id: OMIM:240600
For additional species annotation, visit the Alliance of Genome Resources.

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Glycogen Storage Disease 0, Liver term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gys2 glycogen synthase 2 ISO ClinVar Annotator: match by OMIM:240600
ClinVar Annotator: match by term: Hypoglycemia with deficiency of glycogen synthetase in the liver
PMID:106027, PMID:141912, PMID:8534634, PMID:9691087, PMID:12072888, PMID:16337419, PMID:18341095, PMID:20051115, PMID:24033266, PMID:25070466, PMID:25741868, PMID:28245189, PMID:28492532 NCBI chr 4:176,638,632...176,679,805
Ensembl chr 4:176,638,629...176,679,815
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      endocrine system disease 0
        liver disease 2413
          Glycogen Storage Disease 0, Liver 1
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          inherited metabolic disorder 2237
            carbohydrate metabolic disorder 393
              glycogen metabolism disorder 79
                glycogen storage disease 79
                  Glycogen Storage Disease 0, Liver 1
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.